Variant report

Variant	esv3367176
Chromosome Location	chr14:69364199-69367597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69364211..69366174-chr14:69369091..69370843,2	K562	blood:
2	chr14:69366379..69368743-chr14:69454832..69457651,2	MCF-7	breast:
3	chr14:69363316..69366720-chr14:69444431..69447515,3	MCF-7	breast:
4	chr14:69362112..69364661-chr14:69368763..69371036,2	MCF-7	breast:
5	chr14:69360053..69363258-chr14:69363316..69367429,3	K562	blood:
6	chr14:69361702..69363258-chr14:69365131..69367429,2	K562	blood:
7	chr14:69364211..69367426-chr14:69367828..69370926,4	K562	blood:
8	chr14:69358005..69360954-chr14:69365847..69368420,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072110	chromatin interactions
ENSG00000259062	chromatin interactions

Extended variants
information (count: 161 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543283350	chr14:69364236-69364237	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs186779592	chr14:69364272-69364273	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550345589	chr14:69364339-69364340	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11158772	chr14:69364352-69364353	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs7152086	chr14:69364431-69364432	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11158773	chr14:69364436-69364437	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs11158774	chr14:69364468-69364469	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs539806480	chr14:69364479-69364480	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs114194666	chr14:69364511-69364512	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576480979	chr14:69364523-69364524	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs537192645	chr14:69364599-69364600	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs7153755	chr14:69364611-69364612	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs574502489	chr14:69364620-69364621	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs541645595	chr14:69364622-69364623	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559981977	chr14:69364671-69364672	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572970716	chr14:69364708-69364709	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs572043465	chr14:69364714-69364715	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374960655	chr14:69364762-69364763	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs545372045	chr14:69364779-69364780	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563972580	chr14:69364786-69364787	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs118179065	chr14:69364790-69364791	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs573445709	chr14:69364808-69364809	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs536696978	chr14:69364825-69364826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549569705	chr14:69364877-69364878	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs555231053	chr14:69364888-69364889	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs561824339	chr14:69364919-69364920	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150752556	chr14:69364934-69364935	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs3784133	chr14:69364953-69364954	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs566358560	chr14:69364968-69364969	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs540162705	chr14:69364995-69364996	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs368274424	chr14:69365081-69365082	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs534461515	chr14:69365113-69365114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569912492	chr14:69365129-69365130	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542597385	chr14:69365132-69365133	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192874194	chr14:69365135-69365136	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs558311295	chr14:69365147-69365148	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs367652128	chr14:69365166-69365167	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535256407	chr14:69365169-69365170	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs553580888	chr14:69365199-69365200	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs139138304	chr14:69365213-69365214	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs545731622	chr14:69365223-69365224	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs552768882	chr14:69365242-69365243	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs761900	chr14:69365255-69365256	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs575901331	chr14:69365266-69365267	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs543426957	chr14:69365286-69365287	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs545467619	chr14:69365299-69365300	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs149520637	chr14:69365306-69365307	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs375347440	chr14:69365347-69365348	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs557200683	chr14:69365348-69365349	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369442798	chr14:69365352-69365353	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD

Chromatin state (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69336400-69364200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:69336400-69378200	Strong transcription	Primary T cells from cord blood	blood
3	chr14:69337400-69404400	Weak transcription	Fetal Brain Male	brain
4	chr14:69337800-69379200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:69337800-69380600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:69338000-69365400	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr14:69338000-69366200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr14:69338000-69378800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:69338200-69365000	Strong transcription	Pancreas	Pancrea
10	chr14:69338200-69365600	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr14:69338200-69375000	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr14:69338200-69378200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr14:69338400-69377800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:69338600-69370600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:69339200-69394600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:69340800-69366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:69341800-69364800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr14:69341800-69366400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr14:69341800-69378400	Strong transcription	Fetal Intestine Small	intestine
20	chr14:69341800-69380400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:69342000-69378200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:69342200-69378200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:69345800-69394800	Weak transcription	Small Intestine	intestine
24	chr14:69346800-69379800	Strong transcription	Fetal Intestine Large	intestine
25	chr14:69348200-69389200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:69348600-69364800	Weak transcription	Stomach Mucosa	stomach
27	chr14:69348600-69375200	Weak transcription	K562	blood
28	chr14:69351400-69365600	Weak transcription	Fetal Kidney	kidney
29	chr14:69353000-69371600	Weak transcription	Brain Hippocampus Middle	brain
30	chr14:69354000-69393200	Strong transcription	NHEK	skin
31	chr14:69354400-69378600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr14:69354600-69371800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr14:69354600-69379000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr14:69354600-69379000	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:69354600-69393000	Strong transcription	Dnd41	blood
36	chr14:69354800-69365200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr14:69354800-69365200	Strong transcription	Spleen	Spleen
38	chr14:69354800-69365400	Strong transcription	Gastric	stomach
39	chr14:69354800-69366000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:69355800-69366400	Strong transcription	Liver	Liver
41	chr14:69355800-69378200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:69357000-69371800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr14:69357000-69375400	Weak transcription	Brain Substantia Nigra	brain
44	chr14:69357800-69373400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:69358000-69365600	Weak transcription	Brain Angular Gyrus	brain
46	chr14:69358200-69379200	Strong transcription	HepG2	liver
47	chr14:69360000-69364200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr14:69360000-69365000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:69360200-69364400	Weak transcription	Fetal Thymus	thymus
50	chr14:69360400-69364200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links